Risk stratification of hemodynamically significant patent ductus arteriosus by clinical and genetic factors.

Background: Hemodynamically significant patent ductus arteriosus (hsPDA) is associated with increased comorbidities in neonates. Early evaluation of hsPDA risk is critical to implement individualized intervention. The aim of the study was to provide a powerful reference for the early identification of high-risk hsPDA population and early treatment decisions.

[Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].

Objectives: To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.

Methods: The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.

Secondary genomic findings in the 2020 China Neonatal Genomes Project participants.

Background: During next generation sequencing (NGS) data interpretation in critically ill newborns, there is a potential for recognizing and reporting secondary findings (SFs). Early awareness of SFs may provide clues for disease prevention. In this study, we assessed the frequency of SFs in the China Neonatal Genomes Project (CNGP) participants.

[Correlation of single nucleotide polymorphisms of the osteopontin gene with astheozoospermia].

Objective: To investigate the correlation of the single nucleotide polymorphisms (SNP) rs1126772, rs117291487, rs11730582, rs142608941 and rs6813526 of the osteopontin (OPN) gene with the risk of asthenozoospermia (AZS).

Methods: We included 135 AZS patients in the AZS group and another 239 fertile men as normal controls. Using the SNaPshot technique, we genotyped the rs1126772, rs117291487, rs11730582, rs142608941 and rs6813526 polymorphisms of the OPN gene in all the subjects and analyzed the correlation of the five SNPs with AZS.

Association of LncRNA-GAS5 gene polymorphisms and PBMC LncRNA-GAS5 level with risk of systemic lupus erythematosus in Chinese population.

Growth arrest-specific 5 (GAS5) is a kind of long non-coding RNAs (lncRNAs). Previous studies showed that down-regulation of LncRNA-GAS5 was involved in the development of systemic lupus erythematosus (SLE). However, the regulatory mechanism of down-expressed LncRNA-GAS5 in SLE remains obscure.

The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.

Accumulated genetic evidences indicate that the contactin associated protein-like (CNTNAP) family is implicated in autism spectrum disorders (ASD). In this study, we identified genetic mutations in the CNTNAP3 gene from Chinese Han ASD cohorts and Simons Simplex Collections. We found that CNTNAP3 interacted with synaptic adhesion proteins Neuroligin1 and Neuroligin2, as well as scaffolding proteins PSD95 and Gephyrin.

A Genetic Variant of miR-34a Contributes to Susceptibility of Ischemic Stroke Among Chinese Population.

miRNAs are small non-coding RNAs modulating gene expression, and variants in miRNA genes are involved in the pathogenesis of ischemic stroke (IS). However, the effect of miR-34a polymorphisms on IS susceptibility has rarely been reported. In the present study, we investigated the association between rs12128240, rs2666433, and rs6577555 of the miR-34a gene and IS susceptibility.

Association between polymorphisms in the promoter region of miR-17-92 cluster and systemic lupus erythematosus in a Chinese population.

The aim of this study was to investigate the association of genetic polymorphisms in the promoter region of miR-17-92 with systemic lupus erythematosus (SLE). The gene polymorphism was analysed using SNaPshot in 312 SLE patients and 396 controls. Relative expression of miR-17-92 was measured by quantitative real-time PCR.

Association of S100B polymorphisms and serum S100B with risk of ischemic stroke in a Chinese population.

The levels of serum S100B were elevated in patients with ischemic stroke (IS), which may be a novel biomarker for diagnosing IS. The aim of this study was to investigate the association of S100B polymorphisms and serum S100B with IS risk. We genotyped the S100B polymorphisms rs9722, rs9984765, rs2839356, rs1051169 and rs2186358 in 396 IS patients and 398 controls using polymerase chain reaction-single base extension (SBE-PCR).

The association of IL-17A polymorphisms with IL-17A serum levels and risk of ischemic stroke.

The aim of our study was to investigate the association of interleukin-17A (IL-17A) polymorphisms with IL-17A serum levels and risk of ischemic stroke (IS) in a Chinese population. 392 IS patients and 443 controls were included in this study. The polymorphisms of IL-17A gene were determined by Snapshot SNP genotyping assay and DNA sequencing.

Association of interleukin 13 gene polymorphisms and plasma IL 13 level with risk of systemic lupus erythematosus.

Interleukin (IL) 13 plays a critical role in inflammatory diseases, including systemic lupus erythematosus (SLE). This study aims to explore the potential association of IL-13 polymorphisms with the risk of SLE. We genotyped IL-13 rs20541, rs848 and rs1295686 using Snapshot SNP genotyping assays.

A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Background And Aims: Large indels are commonly identified in patients but are not detectable by routine Sanger sequencing and panel sequencing. We specially designed a multi-gene panel that could simultaneously test known large indels in addition to ordinary variants, and reported the diagnostic yield in patients with intrahepatic cholestasis.

Methods: The panel contains 61 genes associated with cholestasis and 25 known recurrent large indels.

Characterization of a joint recirculation of concentrated leachate and leachate to landfills with a microaerobic bioreactor for leachate treatment.

With comparison of a traditional landfill, a joint recirculation of concentrated leachate and leachate to landfills with or without a microaerobic reactor for leachate treatment was investigated in this study. The results showed that the joint recirculation of concentrated leachate and leachate with a microaerobic reactor for leachate treatment could not only utilize the microaerobic reactor to buffer the fluctuation of quality and quantity of leachate during landfill stabilization, but also reduce the inhibitory effect of acidic pH and high concentrations of ammonium in recycled liquid on microorganisms and accelerate the degradation of landfilled waste. After 390 days of operation, the discharge of COD and total nitrogen (TN) from the landfill with leachate pretreatment by a microaerobic reactor was 7.

Cold hardiness and biochemical response to low temperature of the unfed bush tick Haemaphysalis longicornis (Acari: Ixodidae).

Background: The survival of overwintering ticks, is critical for their subsequent population dynamics in the spring, and consequent transmission of tick-borne diseases. Survival is largely influenced by the severity of the winter temperatures and their degree of cold hardiness at the overwintering stage. The bush tick Haemaphysalis longicornis, is widely distributed in China, and can transmit various pathogens that pose serious medical/veterinary problems.

[Expressions of bFGF and PTEN in cervical carcinoma and their clinical significance].

Objective: To investigate the expressions of bFGF and PTEN in cervical carcinoma and their clinical significance.

Methods: Tissue microarray technique and immunohistochemistry SP method were used to detect the expressions of bFGF and PTEN in 143 cases of invasive carcinoma of cervix (ICC) and 20 cases of normal cervical epithelium remote from tumor (NCE). The relationship between the expressions of bFGF and PTEN in ICC and some factors relating to clinical pathology of cervical carcinoma such as histopathological grading, lymph node metastasis, stroma involvement and FIGO staging were analyzed.

Cytoreductive surgery plus hyperthermic intraperitoneal chemotherapy improves survival in selected patients with peritoneal carcinomatosis from abdominal and pelvic malignancies: results of 21 cases.

We evaluated the perioperative safety profile and efficacy of cytoreductive surgery (CRS) plus hyperthermic intraperitoneal chemotherapy (HIPEC) in 21 patients with peritoneal carcinomatosis (PC) from gastrointestinal and gynecological cancers. Twenty-one patients with PC (12 gastric cancer, 5 colorectal cancer, 2 ovarian cancer, 1 pseudomyxoma peritonei, 1 malignant mesothelioma) were treated with CRS + HIPEC with hydroxycamptothecin 20 mg and mitomycin C 30 mg in 12,000 mL of normal saline at 43 +/- .5 degrees C for 60 to 90 minutes.

[Expression of COX-2 and MMP-9 in cervical carcinoma and their clinical significance].

Objective: To investigate the expressions of COX-2 and MMP-9 in cervical carcinoma and their clinical significance.

Methods: Immunohistochemical SP method was used to detect the expressions of COX-2 and MMP-9 in 72 cases of invasive carcinoma of cervix (ICC) and 16 cases of normal cervical epithelium remote from tumor (NCE), and the relationship between the expressions of COX-2 and MMP-9 in ICC and some factors relating to clinical pathology of cervical carcinoma such as histopathological grading, lymph node metastasis, stroma involvement and FIGO staging were analyzed statistically.

Results: The rates of positive expression of COX-2 and MMP-9 in ICC were significantly higher than those in NCE.